Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Fusion genes are potent driver mutations in cancer. In this study, we delineate the fusion gene landscape in a consecutive series of 195 paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL). Using RNA sequencing, we find in-frame fusion genes in 127 (65%) cases, including 27 novel fusions. We describe a subtype characterized by recurrent IGH-DUX4 or ERG-DUX4 fusions, representing 4% of cases, leading to overexpression of DUX4 and frequently co-occurring with intragenic ERG deletions. Furthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations. Thus, this study provides a detailed overview of fusion genes in paediatric BCP ALL and adds new pathogenetic insights, which may improve risk stratification and provide therapeutic options for this disease.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • University Medical Center Schleswig-Holstein Campus Kiel
  • Linköping University Hospital
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
Originalspråkengelska
Artikelnummer11790
TidskriftNature Communications
Volym7
StatusPublished - 2016 jun 6
PublikationskategoriForskning
Peer review utfördJa

Relaterad forskningsoutput

Axel Hyrenius Wittsten, 2017, Lund: Lund University, Faculty of Medicine. 79 s.

Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

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